Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs391525
rs391525
IRF8
3 0.882 0.200 16 85910833 intron variant A/G;T snv 0.35 0.800 1.000 2 2011 2012
dbSNP: rs6449182
rs6449182
CD38
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.020 1.000 2 2009 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2012 2012
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs9378805
rs9378805 		4 0.851 0.280 6 417727 intergenic variant A/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs210142
rs210142
BAK1 ; GGNBP1
3 0.925 0.120 6 33579060 intron variant T/C snv 0.74 0.820 1.000 3 2012 2013
dbSNP: rs757978
rs757978
FARP2
4 0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02 0.820 1.000 3 2010 2013
dbSNP: rs1050976
rs1050976
IRF4
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs11636802
rs11636802
LOC105370831
2 0.925 0.120 15 56483399 intergenic variant A/G snv 8.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs11688943
rs11688943
PPIL3
1 1.000 0.120 2 200875545 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs13401811
rs13401811
ACOXL
2 0.925 0.120 2 110858527 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs2072135
rs2072135
OAS3
2 0.925 0.120 12 112961374 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs2147420
rs2147420
FAS
1 1.000 0.120 10 88999856 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2292982
rs2292982
IRF8
3 1.000 0.120 16 85911217 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2466032
rs2466032
PCAT1 ; CASC19
1 1.000 0.120 8 127197575 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs2466035
rs2466035
PCAT1 ; CASC19
2 0.925 0.120 8 127198984 intron variant T/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs35748167
rs35748167 		1 1.000 0.120 18 60370200 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3769825
rs3769825
CASP8
2 0.925 0.120 2 201246657 intron variant A/G snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs391023
rs391023 		2 0.925 0.120 16 85894208 upstream gene variant C/T snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs4987852
rs4987852
BCL2
3 0.925 0.120 18 63126688 3 prime UTR variant T/C snv 5.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs4987855
rs4987855
BCL2
2 0.925 0.120 18 63126316 3 prime UTR variant C/T snv 5.9E-02 0.800 1.000 1 2013 2013